Angiomatoid Fibrous Histiocytoma: The Current Status of Pathology and Genetics

2015 ◽  
Vol 139 (5) ◽  
pp. 674-682 ◽  
Author(s):  
Khin Thway ◽  
Cyril Fisher
Keyword(s):  
Fibrous Histiocytoma ◽  
Case Reports ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Case Series ◽  
Current Status ◽  
Gene Fusions ◽  
Soft Tissue Neoplasm ◽  
Medical Databases ◽  
Angiomatoid Fibrous Histiocytoma

Context Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue neoplasm of intermediate biologic potential and uncertain differentiation, most often arising in the superficial extremities of children and young adults. While it has characteristic histologic features of nodular distributions of ovoid and spindle cells with blood-filled cystic cavities and a surrounding dense lymphoplasmacytic infiltrate, there is a significant morphologic spectrum, which coupled with its rarity and lack of specific immunoprofile can make diagnosis challenging. Angiomatoid fibrous histiocytoma is associated with 3 characteristic gene fusions, EWSR1-CREB1 and EWSR1-ATF1, which are also described in other neoplasms, and rarely FUS-ATF1. Angiomatoid fibrous histiocytoma is now recognized at an increasing number of sites and is known to display a variety of unusual histologic features. Objective To review the current status of AFH, discussing putative etiology, histopathology with variant morphology and differential diagnosis, and current genetics, including overlap with other tumors harboring EWSR1-CREB1 and EWSR1-ATF1 fusions. Data Sources Review of published literature, including case series, case reports, and review articles, in online medical databases. Conclusions The occurrence of AFH at several unusual anatomic sites and its spectrum of morphologic patterns can result in significant diagnostic difficulty, and correct diagnosis is particularly important because of its small risk of metastasis and death. This highlights the importance of diagnostic recognition, ancillary molecular genetic confirmation, and close clinical follow-up of patients with AFH. Further insight into the genetic and epigenetic changes arising secondary to the characteristic gene fusions of AFH will be integral to understanding its tumorigenic mechanisms.

Intracranial angiomatoid fibrous histiocytoma presenting as recurrent multifocal intraparenchymal hemorrhage

2010 ◽  
Vol 112 (5) ◽  
pp. 978-982 ◽  
Author(s):  
Pawel G. Ochalski ◽  
James T. Edinger ◽  
Michael B. Horowitz ◽  
William R. Stetler ◽  
Geoffrey H. Murdoch ◽  
...  
Keyword(s):  
Cavernous Malformation ◽  
Fibrous Histiocytoma ◽  
Biological Behavior ◽  
Intraparenchymal Hemorrhage ◽  
Soft Tissue Neoplasm ◽  
Recurrent Hemorrhage ◽  
Angiomatoid Fibrous Histiocytoma ◽  
Molecular Studies ◽  
Resection Specimen ◽  
Children And Young Adults

Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue neoplasm that most commonly appears in the limbs, typically affecting children and young adults. The tumor has a propensity for local recurrence and recurrent hemorrhage but rarely for remote metastasis. To date, only 2 reports have documented an intracranial occurrence of the tumor (1 of which was believed to be metastatic disease). This is the second report of primary intracranial AFH. Additionally, hemorrhage from an intracranial AFH lesion has yet to be reported, and little is known about the radiographic characteristics and biological behavior of these lesions. In this report, the authors describe the case of a patient with recurrent hemorrhage due to primary multifocal intracranial AFH. Initially misdiagnosed as a cavernous malformation and then an unusual meningioma, the tumor was finally correctly identified when there was a large enough intact resection specimen to reveal the characteristic histological pattern. The diagnosis was confirmed using immunohistochemical and molecular studies.

scholarly journals Subcutaneous Angiomatoid Fibrous Histiocytoma Mimicking Metastatic Melanoma

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
E. Sparreboom ◽  
C. Wetzels ◽  
M. Verdijk ◽  
S. Mulder ◽  
W. Blokx
Keyword(s):  
Lymph Node ◽  
Metastatic Melanoma ◽  
Molecular Diagnostics ◽  
Soft Tissue Tumor ◽  
Fibrous Histiocytoma ◽  
Case Reports ◽  
Relevant Literature ◽  
Node Metastasis ◽  
Angiomatoid Fibrous Histiocytoma ◽  
The Past

Angiomatoid fibrous histiocytoma is an uncommon soft-tissue tumor of intermediate malignancy that is often misdiagnosed initially. As there is not one immunohistochemical marker that consequently stains positive or negative for angiomatoid fibrous histiocytoma, molecular diagnostics are becoming more widely used. So far three translocations have been reported to arise in angiomatoid fibrous histiocytoma: FUS-ATF1, EWSR1-CREB1, or EWSR1-ATF1. We present a case of angiomatoid fibrous histiocytoma on the upper arm of a 40-year-old female, which was initially misdiagnosed as metastatic melanoma in a lymph node. Revision of the pathology revealed an angiomatoid fibrous histiocytoma, which was later confirmed by a EWSR1-CREB1 translocation with molecular diagnostics. Furthermore, we review the relevant literature and provide an overview of all available case reports in the past ten years. This case report illustrates the importance for pathologists of knowing the typical pathology features of AFH and integrating immunohistochemical and molecular findings in order to prevent overdiagnosis of lymph node metastasis of a malignancy.

Angiomatoid fibrous histiocytoma - case series with emphasis on a late fibrotic variant

2015 ◽  
Vol 13 (5) ◽  
pp. 441-448 ◽  
Author(s):  
Michael Wilk ◽  
Bettina G. Zelger ◽  
Maria Debiec-Rychter ◽  
Raf Sciot ◽  
Bernhard Zelger
Keyword(s):  
Fibrous Histiocytoma ◽  
Case Series ◽  
Angiomatoid Fibrous Histiocytoma

scholarly journals The Vascular Swirls- Angiomatoid Fibrous Histiocytoma

2021 ◽  
Vol 1 (3) ◽  
pp. 15-23
Author(s):  
Anubha Bajaj
Keyword(s):  
Soft Tissue ◽  
Malignant Fibrous Histiocytoma ◽  
Distant Metastasis ◽  
Fibrous Histiocytoma ◽  
Soft Tissue Neoplasm ◽  
Undifferentiated Pleomorphic Sarcoma ◽  
Angiomatoid Fibrous Histiocytoma ◽  
Pleomorphic Sarcoma

Angiomatoid fibrous histiocytoma (AFH) is an exceptional, soft tissue neoplasm of indeterminate lineage and intermediate malignancy associated with minimal localized tumour reoccurrence and infrequent distant metastasis. Preliminarily contemplated to be a variant or derivative of malignant fibrous histiocytoma or undifferentiated pleomorphic sarcoma or an unusual fibrohistiocytic sarcoma, angiomatoid fibrous histiocytoma predominantly incriminates young po pulation and superficial sites although several extra-somatic sites can be implicated.

Angiomatoid Fibrous Histiocytoma: A Review With Recent Genetic Findings

2008 ◽  
Vol 132 (2) ◽  
pp. 273-277 ◽  
Author(s):  
Khin Thway
Keyword(s):  
Young Adults ◽  
Differential Diagnosis ◽  
Malignant Fibrous Histiocytoma ◽  
Fibrous Histiocytoma ◽  
Molecular Genetic ◽  
Angiomatoid Fibrous Histiocytoma ◽  
Lymphoplasmacytic Infiltrate ◽  
Children And Young Adults

Abstract Angiomatoid fibrous histiocytoma is a neoplasm of intermediate biologic potential most often arising in the extremities of children and young adults. Its rarity may lead to misdiagnosis as either a reactive lesion or a benign or higher-grade tumor. Originally described as a type of malignant fibrous histiocytoma, its differentiation remains enigmatic, with precise histogenesis still only hypothesized. Its morphology is distinct, as a circumscribed lesion with sheets of bland spindle to ovoid cells, peripheral lymphoplasmacytic infiltrate, and blood-filled cystic cavities, and half of the cases show strong desmin expression. Cytogenetically, 2 specific translocations, t(12:16)(q13:p11) and more recently t(12:22)(q13:q12), have been characterized. The literature on angiomatoid fibrous histiocytoma is reviewed, particularly with regard to recent molecular genetic developments and differentiation, and its morphology, immunohistochemistry, and differential diagnosis are summarized.

scholarly journals Current status of case reports and case series reported by Korean Medicine doctors in primary clinics: a systematic review

2020 ◽  
Vol 9 (4) ◽  
pp. 100417 ◽  
Author(s):  
Jeong Hwan Park ◽  
Sanghun Lee ◽  
Tae-Hun Kim ◽  
Soyoung Kim ◽  
Jun-Hwan Lee
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Case Series ◽  
Current Status ◽  
Korean Medicine

scholarly journals A review of 50 cases of bath-related headache: clinical features and possible diagnostic criteria

2018 ◽  
Vol 76 (5) ◽  
pp. 346-351
Author(s):  
Raimundo Pereira Silva-Néto
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Features ◽  
Case Reports ◽  
Case Series ◽  
Tension Type Headache ◽  
Medical Databases ◽  
Severe Intensity ◽  
Hot Bath ◽  
Structural Lesion ◽  
Type Headache

ABSTRACT Objective: To describe clinical features and possible diagnostic criteria of the 50 bath-related headache (BRH) cases that have been published in the literature to date. Methods: Based on a literature search in the major medical databases, we analyzed all case reports or case series on BRH that were published between 2000 and 2017. Results: We describe 48 women and two men diagnosed with BRH. Of these 50 patients, 90% were from Asian countries. The average age was 49.3 years. There was an association of BRH with migraine (28%), tension-type headache (12%) and cold stimulus headache (4%). Headache was bilaterally localized, had an explosive or pulsating quality and a severe intensity. The pain lasted from five minutes to four days. Associated manifestations were nausea, vomiting, photophobia or phonophobia. There was a good therapeutic response with nimodipine and when avoiding a hot bath. Conclusions: Bath-related headache is a benign headache that is not associated with a structural lesion.

scholarly journals Clinical Features of POEMS Syndrome In Southeast Asia: A Literature-Based Study

2021 ◽  
Author(s):  
Mario B. Prado ◽  
Karen Joy Adiao
Keyword(s):  
Southeast Asia ◽  
Age Of Onset ◽  
Chronic Inflammatory Demyelinating Polyneuropathy ◽  
Case Reports ◽  
Correct Diagnosis ◽  
Geographical Location ◽  
Case Series ◽  
Signs And Symptoms ◽  
Poems Syndrome ◽  
Search Terms

Abstract Purpose: To determine and analyze the clinical characteristics of POEMS Syndrome among Southeast Asian countries.Methods: We searched the literature using a pre-specified inclusion and exclusion criteria and using the search terms “[(POEMS) or (Takatsuki) or (PEP) or (Crow Fukase) and (syndrome)] AND [Countries/People of Southeast Asia]”.Results: Seven studies, including 5 case reports, 1 case series and 1 correspondence letter containing 8 patients were eligible for analysis. The median age of onset was 54 years, while the median duration to correct diagnosis was 5.5 months. The most common initial presentation was weakness (4/6) with 50% initially diagnosed as chronic inflammatory demyelinating polyneuropathy. On physical examination, 100% had evidence of length dependent polyneuropathy, 80% had papilledema, 75% had edema/effusion, 86% had skin changes and 67% had organomegaly. All had abnormal NCS and CT scan while 1 tested negative for monoclonal gammopathy restricted to lambda. Only 2 had VEGF results, one of which was normal. Melphalan and steroid combination was the most common treatment given with only 1 case dying of sepsis. Conclusion: Although the number of cases in Southeast Asia is lower, which can be attributed to difference in ethnicity and geographical location, the presenting signs and symptoms of this condition was similar to other countries. However, the new proposed criteria may not be applicable in the region as only few countries are capable of doing VEGF testing.

scholarly journals Hypophosphatasia in children. Three faces of one disease

2020 ◽  
Vol 3 (2) ◽  
pp. 136-141
Author(s):  
S.A. Boykov ◽  
◽  
I.Yu. Chernyak ◽  
N.S. Shatokhina ◽  
E.Yu. Gurkina ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Clinical Symptoms ◽  
Bone Mineralization ◽  
Case Reports ◽  
Molecular Genetic ◽  
Case Series ◽  
Alp Activity ◽  
Systemic Manifestations ◽  
Molecular Genetic Test ◽  
Reduced Mobility

Hypophosphatasia (HPP) is a rare multisystem inherited metabolic disorder caused by mutations in ALPL gene that encodes tissue nonspecific alkaline phosphatase responsible for bone mineralization. HPP is characterized by impaired bone mineralization, skeletal abnormalities, and systemic manifestations which result in significant morbidity and mortality. Clinical presentations of HPP vary greatly. Early (perinatal and infantile) HPP is characterized by the most severe symptoms, i.e., respiratory and neurological disorders are of crucial importance being the leading causes of death. Progressive skeletal impairment, rickets-like deformities, reduced mobility, and severe disability are typical of childhood-onset HPP. The biochemical hallmark of HPP is low alkaline phosphatase (ALP) activity. HPP diagnosis is verified by clinical symptoms in combination with persistently low ALP activity (adjusted for age and sex). Molecular genetic test to identify ALPL gene mutation is performed as needed. Three case reports addresses authors’ experience with the diagnosis and treatment for HPP.Keywords: hypophosphatasia, case series, alkaline phosphatase, impaired bone mineralization, asfotase alfa.For citation: Boykov S.A., Chernyak I.Yu., Shatokhina N.S. et al. Hypophosphatasia in children. Three faces of one disease. Russian Journal of Woman and Child Health. 2020;3(2):136–141. DOI: 10.32364/2618-8430-2020-3-2-136-141.

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